Varaico: Literature-Extracted Genetic Variants

CASR

1,267 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intrace...

Pfam Domains

ANF_receptoraa 69–497UCSCReceptor family ligand binding region

NCD3Gaa 537–591UCSCNine Cysteines Domain of family 3 GPCR

7tm_3aa 606–856UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

calcium sensing receptor

HGNC Previous Symbols

HHC; HHC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000388.4

p.E981D

c.2943G>C

Surrounding Variants

1 paper

NM_000388.4

p.E981D

c.2943G>T

1 paper

NM_000388.4

p.E981G

c.2942A>G

1 paper

NM_000388.4

p.P982T

c.2944C>A

1 paper

NM_000388.4

p.E981K

c.2941G>A

1 paper

NM_000388.4

p.Q983ins1

c.2948_2949insCAC

2 papers

NM_000388.4

p.Q983R

c.2948A>G

1 paper

NM_000388.4

p.S978R

c.2934C>A

1 paper

NM_000388.4

p.S978R

c.2934C>G

1 paper

NM_000388.4

p.S978N

c.2933G>A

1 paper

NM_000388.4

p.S978T

c.2933G>C

1 paper

NM_000388.4

p.S978R

c.2932A>C

1 paper

NM_000388.4

p.N985T

c.2954A>C